C242F (p.Cys242Phe) variant of TP53 (Cellular tumor antigen p53)
C242F (p.Cys242Phe) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
C242F (p.Cys242Phe) variant details
- p.Cys242Phe
- rs121912655
- cosmic curated COSV53067
- ClinGen CA501203
- NCI-TCGA Cosmic COSV5266
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Frequent p53 mutations in head and neck cancer. (PMID 1394225)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)